Variant report

Variant	esv2505341
Chromosome Location	chr2:191035912-191037410
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191037119..191040156-chr2:191043755..191048977,6	K562	blood:

Variant related genes	Relation type
ENSG00000187699	chromatin interactions

Extended variants
information (count: 57 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11296048	chr2:191035960-191035961	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs529908977	chr2:191035966-191035967	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs547802539	chr2:191035967-191035968	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs398080919	chr2:191035969-191035970	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs397872614	chr2:191035970-191035971	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs566012330	chr2:191035989-191035990	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs181772945	chr2:191036001-191036002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs698594	chr2:191036018-191036019	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs148808771	chr2:191036102-191036103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186470366	chr2:191036115-191036116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539225209	chr2:191036120-191036121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs62184380	chr2:191036158-191036159	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs572714938	chr2:191036164-191036165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576015588	chr2:191036170-191036171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11296047	chr2:191036211-191036212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs397704039	chr2:191036218-191036219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs199721540	chr2:191036219-191036220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556453320	chr2:191036232-191036233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142456691	chr2:191036295-191036296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147518441	chr2:191036385-191036386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191498688	chr2:191036431-191036432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565427202	chr2:191036439-191036440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577224368	chr2:191036503-191036504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546484647	chr2:191036523-191036524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116452215	chr2:191036528-191036529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559778164	chr2:191036541-191036542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529873375	chr2:191036543-191036544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs698596	chr2:191036621-191036622	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs573318458	chr2:191036652-191036653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182820862	chr2:191036659-191036660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375333494	chr2:191036683-191036684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369400076	chr2:191036713-191036714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186683528	chr2:191036727-191036728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551707959	chr2:191036735-191036736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570537399	chr2:191036754-191036755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534385504	chr2:191036772-191036773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1524374	chr2:191036861-191036862	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs140069491	chr2:191036950-191036951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536839122	chr2:191036967-191036968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555343213	chr2:191037007-191037008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145518267	chr2:191037017-191037018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189706439	chr2:191037026-191037027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528027808	chr2:191037027-191037028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558954357	chr2:191037063-191037064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577286705	chr2:191037076-191037077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1524373	chr2:191037077-191037078	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs553413099	chr2:191037113-191037114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574584356	chr2:191037128-191037129	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs183432180	chr2:191037140-191037141	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs77534126	chr2:191037157-191037158	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191024400-191042200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:191034000-191036200	Enhancers	Fetal Intestine Large	intestine
3	chr2:191034400-191036200	Enhancers	K562	blood
4	chr2:191034600-191036000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:191034600-191037800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:191034800-191037000	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr2:191035200-191037200	Weak transcription	Aorta	Aorta
8	chr2:191035400-191036600	Weak transcription	Small Intestine	intestine
9	chr2:191035600-191036000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr2:191035600-191037000	Enhancers	Fetal Intestine Small	intestine
11	chr2:191036000-191037000	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr2:191036200-191036600	Weak transcription	Fetal Intestine Large	intestine
13	chr2:191036600-191037000	Enhancers	Small Intestine	intestine
14	chr2:191036600-191037600	Enhancers	Fetal Intestine Large	intestine
15	chr2:191037000-191044400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:191037000-191044400	Weak transcription	Small Intestine	intestine
17	chr2:191037200-191037400	Enhancers	Aorta	Aorta

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